Disease #04079 (SCAR16 (ataxia, spinocerebellar, autosomal recessive, type 16 (SCAR-16)), OMIM:615768)

Official abbreviation SCAR16
Name ataxia, spinocerebellar, autosomal recessive, type 16 (SCAR-16)
OMIM ID 615768
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene STUB1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

1 entry on 1 page. Showing entry 1.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00334915 PME4 PubMed: Courage 2021, Journal: Courage 2021 - F yes Italy - - - - - SCAR16 Onset 12 years of age with ataxia. Myoclonus and occsional TCS from age 30. Severe action and reflex myoclonus, severe progressive ataxia and slowly progressive dementia. Tetraparesis and bilateral pes cavus noted. - STUB1 1 1 Carolina Courage
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.